Su Pen-Hua, Chen Jia-Yu, Chen Suh-Jen, Yu Ju-Shan
Institute of Medicine, Chung Shan Medical University, Chung Shan Medical University Hospital, Taichung, Taiwan.
J Formos Med Assoc. 2006 Jun;105(6):518-21. doi: 10.1016/S0929-6646(09)60194-7.
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TCOF1 gene, which encodes the nuclear phosphoprotein treacle. Here, we describe a 1-day-old male infant with classical TCS presentation. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. This is the first report of TCOF1 gene mutation in the Taiwanese population.
特雷彻·柯林斯综合征（TCS）是一种常染色体显性颅面发育障碍疾病，其特征包括颧骨发育不全、小颌畸形、小耳畸形、下斜睑裂、下睑缺损、传导性听力损失和腭裂。TCS由TCOF1基因突变引起，该基因编码核磷蛋白treacle。在此，我们描述一名患有典型TCS表现的1日龄男婴。发现TCOF1基因第22外显子中的一个5碱基缺失（3469del ACTCT）导致了一个提前终止密码子。这是台湾人群中TCOF1基因突变的首次报道。
